5Scriver CR. Why mutation analysis does not always predict clinical consequences: explanations in the era of genomics[ J]. J Pediatr, 2002, 140(5) :502-506. 被引量:1
6Weglage J, Wiedermann D, Denecke J, Feldmann R, Koch HG, Ullrich K, et al. Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria [ J ]. J Inherit Metab Dis, 2002, 25 (6) :431-436. 被引量:1
7Giovannini M, Riva E, Salvatici E, Fiori L, Paci S, Verduci E, et al. Treating phenylketonuria: a single centre experience[J]. J Int Med Res, 2007, 35(6) :742-752. 被引量:1
8Macdonald A, Lee P, Davies P, Daly A, Lilburn M, Gokmen Ozel H, et al. Long-term compliance with a novel vitamin and mineral supplement in older people with PKU [ J]. J Inherit Metab Dis, 2008, 31(6) :718-723. 被引量:1
9Koch R, Moseley KD, Yano S, Nelson M Jr, Moats RA. Large neutral amino acid therapy and phenylketonuria: a promising approach to treatment [ J ]. Mol Genet Metab, 2003, 79 (2) : 110- 113. 被引量:1
10Bik-Multanowski M, Didycz B, Mozrzymas R, Nowacka M, Kaluzny L, Cichy W, et al. Quality of life in noncompliant adults with phenylketonuria after resumption of the diet [ J]. J Inherit Metab Dis, 2009, 32(1) :126. 被引量:1